The specialist in Medical Genetics must have gained scientific and professional knowledge in the field of Medical, Clinical and Laboratory Genetics, and must be able to: recognize and diagnose genetic diseases; to provide useful information for their classification, control and prevention; assisting other specialists in the recognition, diagnosis and management of these diseases; know, manage and interpret the results of laboratory analyses to support the diagnosis of genetic diseases. In order to achieve these objectives, the specialist in Medical Genetics must have gained theoretical, scientific and professional knowledge of the biological bases of genetic, chromosomal, genetic and complex diseases with a large genetic component. The transversal characteristics of the specialization require that the resident develops specific knowledge in hereditary-familial and genetic diseases, including those due to somatic mutation, and acquires theoretical and practical knowledge in genetic counseling and in the activities of the medical genetics laboratory in the cytogenetic, molecular, genomic and immunogenetic fields, aimed at clinical applications in the diagnostic, prognostic and treatment fields. The training courses will be differentiated according to the degree of access and in particular, genetic counseling is considered to be the specific competence of the graduate in Medicine and Surgery.

Basic training objectives: the student must acquire fundamental notions of heredity and the mechanisms underlying human diseases. They must also acquire the theoretical and conceptual bases of human and medical genetics and related diagnostic-clinical aspects, including genetic counseling and genetic testing. He must learn the advanced aspects of research related to recombinant technologies and genomic analysis technologies in medical genetics. He must acquire the scientific bases of embryology, biochemistry, computer science and medical statistics. He must learn the genetic and molecular bases of the immune response and the mechanisms of mutagenesis;

Educational objectives of the type of School: the Resident must have acquired notions of human and medical genetics, internal medicine, pediatrics and obstetrics necessary to complete the training of the specialists of the class for the semiotics, diagnosis and therapy of the pathologies of the individual types of specialization. He must have learned the main laboratory investigations of blood chemistry, immunohaematology and clinical pathology, and their purpose and usefulness for the clinical and diagnostic framework, prevention and monitoring of structures and systems involved in genetic diseases. The student must also obtain the theoretical knowledge and laboratory practice that are the basis of chromosomal, monogenic, polygenic diseases including those caused by somatic mutations; must acquire the knowledge for the development, use and quality control of genetic tests; must learn the methodologies of molecular genetics, cytogenetics, biochemistry aimed at the diagnosis of genetic diseases and recombinant biotechnologies also for the purpose of assessing susceptibility to diseases and response to drugs; he must know the tools of monitoring and gene therapy; he must know the instrumental technologies, including automated ones, that allow molecular analysis and the study of genes and the genome.

Specific to the graduate in Medicine and Surgery are the knowledge, in relation to genetic counseling activities, of the principles of semiotics, both physical and instrumental, and of the clinical notions aimed at defining a diagnostic, prognostic and therapeutic pathway.

Integrated training objectives (i.e. common trunk): the resident must have acquired knowledge of pathophysiology, functional and instrumental semeiotics and therapeutic monitoring in the field of internal, neurological and psychiatric, pediatric, obstetric-gynecological and specialist medical diseases essential for the preparatory training of the specialists of the class for the diagnostic and therapeutic objectives of the pathological conditions of interest to the individual types of specialisation, through the use of courses relating to the relevant scientific-disciplinary sectors.

Similar or supplementary objectives are those useful for training the resident to interact with other specialists in different Areas, including Medical and Services. They must also be able to interact with professionals in the human sciences, community medicine and forensic medicine, also in relation to Physical and Rehabilitation Medicine, Bioethics, General, Clinical and Paediatric Nursing Sciences, Obstetrics and Gynaecology, Oncology and Neurology. With regard to the disciplinary area of Public Health, the fundamental knowledge of Epidemiology, Statistics and Health Management is objective.

For the purposes of the final examination, the student will have to deepen and discuss at the seminar level clinical or laboratory problems encountered in the field of genetic counseling.

The student will also have to acquire the ability to process and organize data derived from clinical activity also through computer tools and evaluation of the bioethical implications of medical genetics.

The following are compulsory professionalizing activities for the achievement of the educational purposes of the Type:

at. Training at complex or simple Clinical Genetics facilities (including Genetic Counseling)

• Participation in the diagnostic classification of at least 250 post-natal cases of genetic diseases and related genetic counseling report and communication of any results of genetic tests, actively contributing to the collection of anamnestic data, carrying out the objective examination, performing searches on genomic databases where appropriate, proposing the planning of rational diagnostic interventions, and critically evaluating clinical data;
• Participation in at least 50 cases of genetic counseling for couple infertility or multiple miscarriages and related genetic counseling report and communication of any results of genetic tests, actively contributing to the collection of anamnestic data, performing searches on genomic databases where appropriate, proposing the planning of rational diagnostic interventions, and critically evaluating clinical data;
• Participation in at least 100 cases of prenatal genetic counseling and related report and communication of any results of genetic tests, actively contributing to the collection of anamnestic data, performing searches on genomic databases where appropriate, proposing the planning of rational diagnostic interventions, and critically evaluating clinical data.

These activities must be carried out interactively with their guardians, within a network of specialist skills, who participate in the definition of the diagnosis, especially in the case of less common or rare diseases.

b. Medical Genetics laboratory activities. Medical residents must complete the following internships:

• Attendance in the laboratory of Cytogenetics and Molecular Cytogenetics with:- participation in the execution of at least 15 karyotypes and/or FISH tests:
  • interpretation of analytical data and drafting of reports of at least 30 karyotypes and/or FISH examinations;
  • participation in the execution of at least 15 analyses for the search for unbalanced genomic rearrangements with array-based methodologies (array-CGH or array-SNP);
  • interpretation of analytical data and drafting of reports of at least 50 analyses for research of unbalanced genomic rearrangements with array-based methodologies (array-CGH or array-SNP);
• Attendance in the laboratory of Molecular Genetics with:
• participation in the performance of at least 20 molecular genetic tests for the search for mutations or genetic variants, including immunogenetic tests, with traditional direct or   indirect analysis methods and/or with next-generation sequencing methods;
• interpretation of analytical data and preparation of reports of at least 30 molecular genetic tests, including immunogenetic tests (at least 5 tests of this type), with direct or indirect analysis methods for the search for mutations or known genetic variants (at least 15 tests of this   type) and/or for the identification of mutations responsible for clinical pictures on a presumed genetic basis by screening the entire sequence of one or more genes (at least 10 tests of this type). typology );
• interpretation of analytical data (including bioinformatics analysis) and drafting of reports of at least 15 examinations carried out with next-generation sequencing methods.